chr5:140647891:C>T Detail (hg38) (IK)

Information

Genome

Assembly Position
hg19 chr5:140,027,476-140,027,476 View the variant detail on this assembly version.
hg38 chr5:140,647,891-140,647,891

HGVS

Type Transcript Protein
RefSeq NM_006083.3:c.-18C>T
Ensemble ENST00000417647.7:c.-18C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600549 OMIM
HGNC 5958 HGNC
Ensembl ENSG00000113141 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Coronary Arteriosclerosis Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implic... BeFree 11199329 Detail
0.016 Coronary Arteriosclerosis Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implic... BeFree 11199329 Detail
0.014 Coronary Arteriosclerosis Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implic... BeFree 11199329 Detail
0.012 asthma TNF-alpha (-308 G/A) and CD14 (-159T/C) polymorphisms in the bronchial responsiv... BeFree 17196641 Detail
<0.001 Cerebrovascular accident In this study, we performed a genetic association study on the single nucleotide... BeFree 18158110 Detail
0.006 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
0.067 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
0.003 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
0.003 coronary artery disease In this study, we performed a genetic association study on the single nucleotide... BeFree 18157711 Detail
Annotation

Annotations

DescrptionSourceLinks
Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the suscepti... DisGeNET Detail
Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the suscepti... DisGeNET Detail
Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the suscepti... DisGeNET Detail
TNF-alpha (-308 G/A) and CD14 (-159T/C) polymorphisms in the bronchial responsiveness of Korean chil... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail
In this study, we performed a genetic association study on the single nucleotide polymorphisms (SNPs... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs201961300 dbSNP
Genome
hg38
Position
chr5:140,647,891-140,647,891
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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